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Objective: To analyze the clinical and molecular diagnostic status of Fanconi anemia (FA) in China. Methods: The General situation, clinical manifestations and chromosome breakage test and genetic test results of 107 pediatric FA cases registered in the Chinese Blood and Marrow Transplantation Registry Group (CBMTRG) and the Chinese Children Blood and Marrow Transplantation Registry Group (CCBMTRG) from August 2009 to January 2022 were analyzed retrospectively. Children with FANCA gene variants were divided into mild and severe groups based on the type of variant, and Wilcoxon-test was used to compare the phenotypic differences between groups. Results: Of the 176 registered FA patients, 69 (39.2%) cases were excluded due to lack of definitive genetic diagnosis results, and the remaining 107 children from 15 hospitals were included in the study, including 70 males and 37 females. The age at transplantation treatment were 6 (4, 9) years. The enrolled children were involved in 10 pathogenic genes, including 89 cases of FANCA gene, 7 cases of FANCG gene, 3 cases of FANCB gene, 2 cases of FANCE gene and 1 case each of FANCC, FANCD1, FANCD2, FANCF, FANCJ, and FANCN gene. Compound heterozygous or homozygous of loss-of-function variants account for 69.2% (72/104). Loss-of-function variants account for 79.2% (141/178) in FANCA gene variants, and 20.8% (37/178) were large exon deletions. Fifty-five children (51.4%) had chromosome breakage test records, with a positive rate of 81.8% (45/55). There were 172 congenital malformations in 80 children.Café-au-Lait spots (16.3%, 28/172), thumb deformities (16.3%,28/172), polydactyly (13.9%, 24/172), and short stature (12.2%, 21/172) were the most common congenital malformations in Chinese children with FA. No significant difference was found in the number of congenital malformations between children with severe (50 cases) and mild FANCA variants (26 cases) (Z=-1.33, P=0.185). Conclusions: FANCA gene is the main pathogenic gene in children with FA, where the detection of its exon deletion should be strengthened clinically. There were no phenotypic differences among children with different types of FANCA variants. Chromosome break test is helpful to determine the pathogenicity of variants, but its accuracy needs to be improved.
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Masculino , Feminino , Humanos , Criança , Anemia de Fanconi/genética , Quebra Cromossômica , Estudos Retrospectivos , Éxons , China/epidemiologiaRESUMO
Aim To explore the regulatory effect of Cangfudaotan Decoction on the ovarian Toll receptor 4 (TLR4)/nuclear transcription factor kBp65 (NF-κB p65) signaling pathway in obese PCOS-IR rats. Methods Forty-eight female rats were randomly divided into normal group (n = 8) and model group (n = 40). The obese PCOS-IR rats were established by letrozole (1 mg · kg
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Organophosphorus pesticides ( OPP) and organophosphorus nerve agents ( OPNAs) are both toxic organophosphorus compounds, which mainly exert toxic effects through irreversible inhibition of acetylcholinesterase ( AChE).This paper takes protein adducts as the research objective, studying the covalent adducts formed by OPP/OPNAs and different target proteins:endogenous scavengers ( butyrylcholinesterase, albumin, transfer-rin) and low-dose toxicity related proteins ( Cytoskeleton pro- tein, neuropathic target esterase, ubiquitin ) .The formation mechanism of protein adducts and the structural characteristics of active sites are reviewed for providing new ideas to confirm the exposure, trace, and accurate treatment and reasonable prevention of OP poisons in the future.
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Objective: To analyse the clinical and gene characteristics of GRIN2B gene related neurological developmental disorders in children. Methods: The data of 11 children with GRIN2B gene related neurological developmental disorders from November 2016 to February 2021 were collected from Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health and analyzed retrospectively. The clinical features, electroencephalogram (EEG), brain imaging and gene testing results were summarized. Results: Among 11 children 6 were boys and 5 were girls. Two of them were diagnosed with developmental and epileptic encephalopathy. The ages of seizures onset were 3 months and 9 months, respectively. Seizure types included epileptic spasm, tonic seizures, tonic spasm and focal seizures, and 1 patient also had startle attacks. EEG showed interictal multifocal epileptiform discharges. Both of them were added with more than 2 anti-seizure drugs, which were partially effective but could not control. They had moderate to severe mental and motor retardation. The phenotype of 9 cases was developmental delay or intellectual disability without epilepsy, age of visit 1 year to 6 year and 4 months of whom 5 cases had severe developmental delay, 2 cases had moderate and 2 cases had mild delay. Multi-focal epileptiform discharges were observed in 3 cases, no abnormality was found in 3 cases, and the remaining 3 cases did not undergo EEG examination. Ten cases underwent brain magnetic resonance imaging (MRI), 6 cases had nonspecific abnormalities and 4 cases were normal. Nine GRIN2B gene heterozygous variants were detected by next-generation sequencing in these 11 patients, 8 cases had missense variants and 1 case had nonsense variant, all of which were de novo and 3 of which were novel. Missense variants were found in 10 patients, among them 6 cases had severe developmental delay, 3 cases had moderate and 1 case had mild developmental delay, but the patient with nonsense variant showed mild developmental delay without epilepsy. Conclusions: The phenotypes of GRIN2B gene related neurological developmental disorders in children are diverse, ranging from mild intellectual impairment without epilepsy to severe epileptic encephalopathy. Patients with epileptic phenotype usually have an onset age of infancy, and spasm and focal seizures are the most common seizure types. And the epiletice episodes are refractory. Most of the patients with missense variants had severe developmental delay.
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Criança , Feminino , Humanos , Lactente , Masculino , Deficiências do Desenvolvimento/genética , Eletroencefalografia , Epilepsia/genética , Estudos Retrospectivos , Convulsões/genética , Espasmos Infantis/genéticaRESUMO
Objective To explore the effect of typical hot spring bathing of Guizhou Province on dyslipidemia, which could provide scientific basis for clarifying the physiotherapy effect of hot springs. Methods The typical hot spring sites of three main types(hydrothermal hot spring, warm mineral hot spring and metasilicate hot spring)in Guizhou Province were selected as investigation sites. 189 residents with hyperlipidemia near the investigation sites were selected as subjects and were treated with hot spring baths for 4 weeks, once a day, 5 times a week and 40-50 minutes each time. The age and gender distribution of the subjects were obtained by a questionnaire. The levels of TC, TG, LDL-C and HDL-C in serum were measured by automatic biochemical analyzer at baseline and at the end of hot spring baths. The differences of the three kinds of hot spring baths on improvement rate of dyslipidemia, the changes of abnormal blood lipid indexes and their improvement rates were compared. Results After baths of hydrothermal hot springs, warm mineral hot springs and metasilicate hot springs, the improvement rates of abnormally elevated lipids were 15.6%, 40.4% and 47.9%, respectively. The improvement rates of abnormally elevated lipids after baths of warm mineral hot springs and metasilicate hot springs were significantly higher than that after hydrothermal spring baths(all P < 0.05). Compared with before hot spring bathing, the levels of TC, TG, LDL-C and non-HDL-C in serum significantly decreased in all three kinds of hot springs. Moreover, the degree of decrease of TG in serum and the improvement rate of abnormal TG after baths of warm mineral spring and metasilicate hot spring were significantly higher than that after hydrothermal spring baths. The degree of decrease of LDL-C in serum and the improvement rate of abnormal LDL-C after baths of metasilicate hot spring were significantly higher than that after baths of hydrothermal spring and warm mineral spring(all P < 0.05). Conclusion The three types of typical hot spring baths in Guizhou Province can mitigate the elevation of blood lipid. Compared with hydrothermal spring, warm mineral spring and metasilicate hot spring may have better improvement effect on blood lipid elevation due to their more significant improvement effect on abnormal elevation of TG and LDL-C in serum.
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Objective • To investigate the effect of genistein (Gen) on lipopolysaccharide (LPS)-induced proinflammatory response in microglia. Methods • Primary microglia were isolated from C57BL/6J mice 1 d after birth, which were divided into 3 groups, i.e. control group, LPS group, and Gen+LPS group. Microglia in LPS group and Gen+LPS group were incubated with LPS (1 μg/mL) for 24 h, and the cells in Gen+LPS group were also pretreated with Gen (10 μmol/L) for 0.5 h. The expression of CD11b was measured by Western blotting analysis. Besides, mitochondrial and intracellular reactive oxygen species (ROS) levels were monitored by MitoSOXTM Red and CM-H2DCFDA staining, respectively. NLRP3 (NLR family pyrin domain containing 3) inflammasom was detected by immunofluorescence. Caspase-1 activity and interleukin-1β (IL-1β) levels were evaluated by colorimetric assay kit and ELISA kit, respectively. Results • Compared with control group, LPS increased CD11b protein expression, and mitochondrial and intracellular ROS levels in microglia (P<0.05). And Gen obviously reversed LPS-induced mitochondrial and intracellular ROS accumulation as well as reduced CD11b expression (P<0.05). In addition, LPS enhanced fluorescence intensity of NLRP3 inflammasome, caspase-1 activity and IL-1β secretion in microglia when compared with control group (P<0.05), while Gen significantly attenuated these effects (P<0.05). Conclusion·Gen can inhibit LPS-induced proinflammatory response including mitochondrial ROS accumulation, activation of NLRP3 inflammasome, and IL-1β secretion in microglia.
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Volatile organic compounds (VOCs) in ambient air can participate in photochemical reactions, which lead to the generation of secondary pollutants such as ozone and aerosol. So real-time and accurate monitoring of atmospheric VOCs plays an important role in the study of the causes of air pollution. On the basis of proton transfer reaction mass spectrometry (PTR-MS) research, a novel dipolar proton transfer reaction mass spectrometer (DP-PTR-MS) for real-time and on-line monitoring atmospheric VOCs was developed. Compared with the conventional PTR-MS with one kind of reagent ion H3O+, DP-PTR-MS had three kinds of reagent ions H3O+, OH-, (CH)2COH+, which could be switched according to the actual detection need. So DP-PTR-MS can improve the qualitative ability and expand the detection range effectively. The reagent ion H3O+can be used for detecting VOCs whose proton affinities are greater than that of H2O. The reagent ion OH-can be used to identify VOCs cooperating with the reagent ion H3O+,and can also be used for detecting some inorganic substances such as CO2. The reagent ion (CH3)2COH+can be used for accurately detecting NH3under interference elimination circumstances. The limit of detection (LOD) and sensitivity of DP-PTR-MS were measured by using six kinds of standard gases. The results showed that the LOD for detecting toluene was 7×10-12(V/V) and the sensitivity for detecting ammonia has reached 126 cps/10-9 (V/V). The ambient air in Hefei city was on-line and real-time monitored for continuous 78 hours with DP-PTR-MS. The results showed that the newly developed DP-PTR-MS could be used for long-term and real-time monitoring atmospheric VOCs with the concentration of 10-12(V/V) level. DP-PTR-MS is an important tool for the study of the causes of atmospheric pollution and the monitoring of trace VOCs emissions.
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Objective To investigate the function of cAMP response element binding protein (CREB) and extracellular signal-regulated kinase (ERK1/2) in osteoclast differentiation mediated by Ca2+/calmodulin-dependent kinase Ⅱ (CaMK Ⅱ)δ,and elucidate the molecular mechanism thereof.Methods CaMK Ⅱδ RNA interference lentivirus vector was constructed and mouse RAW264.7 cells were transfected with the virus to determine the interference efficiency.After virus transfection,RAW264.7 cells were treated with 50ng/ml receptor activator of nuclear factor κB ligand (RANKL) and the phosphorylation levels of CREB and ERK1/2 were detected at different time points.The cells were also treated with PD98059,an ERK1/2 inhibitor,to determine the effect of ERK1/2 signal blocking on the expression of nuclear factor activated T-cells cytoplasmic 1 (NFATc1) and osteoclast differentiation.Results Interference efficiency of recombinant CaMK Ⅱδ virus vector was 77.2% at mRNA level and 70.2% at protein level.CaMK Ⅱδ RNA interference significantly suppressed phosphorylation of CREB and ERK1/2,and the levels ofp-CREB and p-ERK1/2 were down-regulated by 21%-55% and 55%-64%,respectively.ERK1/2 inhibitor significantly down-regulated the protein expression of NFATc1,and the number of osteoclast,the number and size of bone resorption lacunae decreased by 39.3%,50.0% and 52.3%,respectively.Conclusion CaMK Ⅱδ RNA interference may significantly suppress the phosphorylation of CREB and ERK1/2,and CREB and ERK1/2 have mediated the CaMK Ⅱδ-induced osteoclast differentiation.
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Objective To improve the qualified rate of cleaning of loaner orthopedic surgery instruments by application of quality control circle(QCC).Methods QCC activity was carried out in a hospital from May to October 2016, on-site assessment of cleaning quality was performed by two circle members, causes of unqualified cleaning result of loaner orthopedic surgery instruments were recorded, the qualified result of loaner orthopedic surgery instruments before QCC activity(May-June 2016)and after QCC activity(September-October 2016)was compared. Results Before QCC activity, there were 1 667 packages of loaner instruments, 1 415 were qualified for cleaning, qualified rate was 84.88%;after activity, there were 1 673 packages of loaner instruments, 1 655 were qualified for cleaning, qualified rate was 98.92%, difference was statistically significant between two groups(P<0.01), qualified rate increased to 14.04%, target achievement rate was 116%.Conclusion Application of the scientific tool of QCC can improve the qualified rate of cleaning of loaner orthopedic surgery instruments.
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To observe the protective effect of Longxue Tongluo capsule (LTC) on human umbilical vein endothelial cells (EAhy.926 cells) injury induced by oxidized low-density lipoprotein (ox-LDL, 100 mg·L⁻¹). The effect of the cell viability of LTCin alleviating OX-LDL-induced endothelial cell injury was determined by MTT and LDH assay. The effect of LTC on lactic dehydrogenase (LDH), nitric oxide (NO), super oxide dlsmutase (SOD) and malondialdehyde (MDA) levels were detected by corresponding assay kits according to manufacturer's instruction. The effect of LTC on the protein expressions of intercellular cell adhesion molecule-1 (ICAM-1), vascular cell adhesion molecule 1 (VCAM-1), p65, p-p65, IKB and p-IKB were detected by Western blot. The results showed that compared with the normal control group, the activity of EAhy.926 cells was significantly decreased, LDH leakage (<0.01) increased, NO content and SOD activity significantly decreased (<0.01, <0.05), and the expressions of ICAM-1, VCAM-1, p-p65/p65 and p-IKB(<0.05)increased.This study demonstrated that LTC had no significant effect on the growth of normal cells. The treatment with LTC significantly promoted the proliferation of vascular endothelial cells damagedby ox-LDL, decreased MDA content and LDH release, andincreased the activity of SOD and NO content. Meanwhile, ox-LDL significantly increased the expressions of ICAM-1, VCAM-1, p-p65/p65, p-IKB/IKB in Eahy.926 cells; these effects were suppressed by LTC at 1, 2 mg·L⁻¹. In conclusion, LTC has a significant protective effect on human umbilical vein endothelial cells caused by ox-LDL. This study suggested that LTC has a certain therapeutic effect on AS.
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<p><b>OBJECTIVE</b>We aim to explore the potential association between serum gamma-glutamyl transferase levels and functional outcome after aneurysmal subarachnoid hemorrhage in a Chinese population.</p><p><b>METHODS</b>A total of 386 aneurysmal subarachnoid hemorrhage patients were included in the study from September 2007 to February 2015. Baseline serum gamma-glutamyl transferase levels and 6-month follow-up functional outcomes were determined. A poor outcome was defined as a modified ranking scale score of ⋝ 3. The multivariable logistic model was used to analyze the relationship between serum gamma-glutamyl transferase and clinical outcomes after aneurysmal subarachnoid hemorrhage.</p><p><b>RESULTS</b>The adjusted poor outcome rates of patients with gamma-glutamyl transferase levels of < 30 U/L, 30-50 U/L and ⋝ 50 U/L were 16.7%, 19.6%, and 34.4%, respectively (P < 0.01). The age-sex and multivariable adjusted odds ratios (95% confidence intervals) of poor prognosis comparing the top group (⋝ 50 U/L) with the lowest group (< 30 U/L) were 5.76 (2.74-12.13), 6.64 (2.05-21.52), and 6.36 (1.92-21.02). A significant linear trend existed between gamma-glutamyl transferase level and aneurysmal subarachnoid hemorrhage prognosis. This association was also observed among nondrinkers.</p><p><b>CONCLUSION</b>Patients with higher gamma-glutamyl transferase levels were more likely to have a poor prognosis. Serum gamma-glutamyl transferase can be considered to be an independent predictor of functional outcomes after aneurysmal subarachnoid hemorrhage.</p>
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Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Seguimentos , Regulação Enzimológica da Expressão Gênica , Valor Preditivo dos Testes , Hemorragia Subaracnóidea , Sangue , gama-Glutamiltransferase , SangueRESUMO
Objective: To explore the effects of Polygonatum odoratum on body based on metabonomics. Methods: The ultra performance liquid chromatography coupled with mass spectrometry (UPLC-MS) and principle component analysis(PCA) and orthogonal partial least squares discriminant analysis(OPLS-DA) were used to evaluate the changes of endogenous substances in rats after intragastric administration of Polygonatum odoratum. Results: Significant differences between the control group and administration group were observed in PCA and OPLS-DA model. Five potential biomarkers between control group and administration group were identified. The relative content of Alpha-Tocotrienol, PC(14:1(9Z)/14:1(9Z)), Stearic acid, Theasapogenol A, Docosahexaenoic acid increased. Conclusion: The biomarkers had many beneficial activities, so the Mongolian medicine Polygonatum odoratum had the function of health care. Key words: Mongolian drug; Polygonatum odoratum; Biomarkers; UPLC-MS
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<p><b>BACKGROUND</b>The relationship between intramural myomas and fertility remains unclear. The main debate rests on whether cavity-distorting intramural myomas (CDMs) adversely affect fertility more than non-CDMs. We aimed to compare the effects of enucleating non-CDMs and CDMs on fertility improvement in females with unexplained infertility.</p><p><b>METHODS</b>We prospectively recruited 83 women undergoing myomectomy for unexplained infertility with intramural myomas between June 2008 and November 2012 and classified them into non-CDMs group (n = 45) and CDMs group (n = 38). We then compared postoperative infertility rates, spontaneous pregnancy rates, pregnancy outcomes, live birth rates, and obstetric complications. For continuous variables, we calculated the mean ± standard deviation, median and interquartile range, and analyzed the data using Student's t-test and the Mann-Whitney U-test. For categorical variables, the Pearson's Chi-square test, the continuity correction test, and Fisher's exact test were used.</p><p><b>RESULTS</b>Patients' demographics and myoma characteristics were comparable between the two groups. The overall spontaneous pregnancy rate increased from 0% to 68.42% following myomectomy. The postoperative infertility rate was significantly higher in the non-CDMs group than that in the CDMs group (50.00% vs. 23.53%, t = 5.579, P = 0.018), whereas the postoperative spontaneous pregnancy rate was significantly lower in the non-CDMs group than that in the CDMs group (47.62% vs. 70.59%, t = 4.067, P = 0.044). Compared with the enucleation of non-CDM, the enucleation of CDM patients was a protective factor for the fertility restoration (risk ratio [RR] = 3.717, 95% confidence interval [CI]: 1.284-10.753, P = 0.015), although postoperative fertility restoration declined with age (RR = 1.141, 95% CI: 1.005-1.295, P = 0.041).</p><p><b>CONCLUSIONS</b>Intramural myomas are associated with impaired fertility. Women experiencing unexplained infertility, and possessing intramural myomas, have a better chance of conception following myomectomy, and these benefits are more obvious for younger patients and patients with CDM.</p>
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<p><b>OBJECTIVE</b>To investigate the features and duration of viral nucleic acid shedding in children with influenza A.</p><p><b>METHODS</b>The clinical data of 90 children with influenza A with positive influenza A virus nucleic acid in nasopharyngeal swab detected by PCR were collected, and these children were divided into simple influenza A group (n=10), influenza A-pneumonia group (n=61), influenza A-nervous system damage group (n=10), and influenza A-underlying disease group (n=9). A retrospective analysis was performed for clinical features, treatment process, duration of viral nucleic acid shedding, and prognosis.</p><p><b>RESULTS</b>The most common symptoms in these children were fever (89/90, 99%), cough (89/90, 99%), running nose (69/90, 77%), shortness of breath (26/90, 29%), and myalgia (23/90, 26%). The mean duration of viral nucleic acid shedding in 90 children was 9.4±2.9 days. The simple influenza A group had a significantly shorter duration of viral nucleic acid shedding than the influenza A-pneumonia, influenza A-nervous system damage, and influenza A-underlying disease groups (p<0.05), while there were no significant differences between the influenza A-pneumonia, influenza A-nervous system damage, and influenza A-underlying disease groups (p>0.05). The children who received antiviral therapy within 48 hours after disease onset had significantly shorter duration of viral nucleic acid shedding and time to body temperature recovery than those who received antiviral therapy more than 48 hours after disease onset (p<0.05). Of all the children with body temperature recovery, 83% still tested positive for viral nucleic acid.</p><p><b>CONCLUSIONS</b>Complications, underlying diseases, and timing of antiviral therapy are influencing factors for the duration of influenza A virus nucleic acid shedding, and whether body temperature returns to normal cannot be used to decide whether to continue antiviral therapy.</p>
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Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Febre , Vírus da Influenza A , Influenza Humana , Virologia , Ácidos Nucleicos , Metabolismo , Estudos Retrospectivos , Fatores de Tempo , Eliminação de Partículas ViraisRESUMO
<p><b>OBJECTIVE</b>To explore the relationship between different components of fine particulate matter (PM2.5) emitted from coal combustion and their cytotoxic effect in the vascular endothelial cells.</p><p><b>METHODS</b>Coal-fired PM(2.5) was sampled using a fixed-source dilution channel and flow sampler. The sample components were analyzed by ion chromatography and inductively coupled plasma atomic emission spectroscopy (ICP-AES). The PM(2.5) suspension was extracted using an ultrasonic water-bath method and then human umbilical vein endothelial cells (EA.hy926) were treated with various concentrations of the PM(2.5) suspension. Cell proliferation, oxidative DNA damage, and global DNA methylation levels were used to measure the cellular toxicity of PM(2.5) emitted from coal combustion.</p><p><b>RESULTS</b>Compared to other types of coal-fired PM(2.5) preparations, the PM2.5 suspension from Yinchuan coal had the highest cytotoxicity. PM(2.5) suspension from Datong coal had the highest toxic effect while that from Yinchuan coal had the lowest. Exposure to coal-fired PM(2.5) from Jingxi coal resulted in lower 8-hydroxy-2'-deoxyguanosine (8-OHdG) levels. At the same dose, PM(2.5) emitted from coal combustion could produce more severe DNA impairment compared to that produced by carbon black. Cell survival rate was negatively correlated with chloride and potassium ions content. The 5-methylcytosine (5-mC) level was positively correlated with Mn and negatively correlated with Zn levels. The 8 OHdG% level was positively correlated with both Mn and Fe.</p><p><b>CONCLUSION</b>PM(2.5) emitted from coal combustion can decrease cell viability, increase global DNA methylation, and cause oxidative DNA damage in EA.hy926 cells. Metal components may be important factors that influence cellular toxicity.</p>
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Proliferação de Células , Cinza de Carvão , Toxicidade , Dano ao DNA , Metilação de DNA , Células Endoteliais da Veia Umbilical Humana , Testes de ToxicidadeRESUMO
AIM:To observe the inhibition effect of endostatin ( endostar ) on mice choroidal neovascularization model ( CNV) and compare with the Avastin. METHODS: Using 532nm laser photocoagulation to establish a mouse model of CNV. We observed the formation of CNV by histopathological examination after 2wk later. Forty successful models of mice were randomly divided into control group (group 1, 10 rats), normal saline group ( group 2, 10 rats ), endostatin group (group 3, 10 rats) and avastin group (group 4, 10 rats) . The drugs were injected into the mice' vitreous after photocoagulation 2wk later. Then 1wk later, we took the mice eyeballs to perform the HE and immunohistochemical staining to observe. The statistical analysis of ANOVA was done by SPSS 16. 0 and the LSD-t test was used for multiple samples, taking PRESULTS: Two weeks later, HE histopathological examination was done , light microscope showed large amount of new vessels' formation, the positive rate for CNV was 72. 8%. The blank control group compared with the normal saline group P>0. 05, had no inhibitory effect on CNV;endostatin treated group compared with control group, P CONCLUSION: Laser-induced CNV animal models of colored mice C57BL/6J is of short time and high rate establishment and it is an ideal model for CNV study. Endostar has certain inhibitory effect on CNV, and it is likely to become one of the important drugs for CNV-related diseases in the future.
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<p><b>OBJECTIVE</b>To investigate the relationship between the genetic variation of Furin gene and the hypercholesterolemia and hyper-low-density lipoprotein cholesterolemia in Kazakh general population.</p><p><b>METHODS</b>Based on a cross-sectional epidemiological study in a Kazakh general population, a case-control study including 878 subjects was conducted. All the sequence variant-located promoters and exon regions of Furin gene were identified by the direct sequencing of PCR products in 48 randomly selected hypercholesterolemic individuals (24 males and 24 females). After having genotyped the representative polymorphisms in 878 subjects by TaqMan PCR, we investigated the relationship between genetic variation of Furin and hypercholesterolemia/hyper-low-density lipoprotein cholesterolemia in these subjects.</p><p><b>RESULTS</b>Twelve genetic variations in Furin gene were identified by sequencing 48 hypercholesterolemic individuals and 4 common single nucleotide polymorphisms (rs6226, rs6227, rs2071410, and rs4932178)were selected as the representatives for genotyping in these subjects. The rs6226, rs6227, rs2071410, and rs4932178 polymorphisms were successfully genotyped. The distribution of the genotypes, alleles, and haplotypes of rs6226, rs6227, rs2071410, and rs4932178 polymorphisms did not differ significantly between the hypercholesterolemia group and the control groups or between the hyper-low-density lipoprotein cholesterolemia group and the control groups (all P>0.05). The cholesterol and low-density lipoprotein cholesterol levels did not differ significantly among individuals with different genotypes (all P>0.05).</p><p><b>CONCLUSION</b>The genetic variation of Furin may not be associated with hypercholesterolemia or hyper-low-density lipoprotein cholesterolemia in Kazakh general population.</p>
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Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Povo Asiático , Genética , Estudos de Casos e Controles , Estudos Transversais , Furina , Genética , Hipercolesterolemia , Etnologia , Genética , Polimorfismo GenéticoRESUMO
This study is aimed to investigate the effects of high intracellular Mg²⁺ on L-type calcium channel in guinea-pig ventricular myocytes. The cardiomyocytes were acutely isolated with enzyme digestion method. By adopting inside-out configuration of patch clamp technique, single channel currents of the L-type calcium channel were recorded under different intracellular Mg²⁺ concentrations ([Mg²⁺]i). In control group, which was treated with 0.9 mmol/L Mg²⁺, the relative activity of calcium channel was (176.5 ± 34.1)% (n = 7). When [Mg²⁺]i was increased from 0.9 to 8.1 mmol/L (high Mg²⁺ group), the relative activities of calcium channel decreased to (64.8 ± 18.1)% (n = 6, P < 0.05). Moreover, under 8.1 mmol/L Mg²⁺, the mean open time of calcium channel was shortened to about 25% of that under control condition (P < 0.05), but the mean close time of calcium channel was not altered. These results suggest that high intracellular Mg²⁺ may inhibit the activities of L-type calcium channel, which is mainly due to the shortening of the mean open time of single L-type calcium channel.
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Animais , Canais de Cálcio Tipo L , Fisiologia , Cobaias , Magnésio , Fisiologia , Miócitos Cardíacos , Fisiologia , Técnicas de Patch-ClampRESUMO
<p><b>OBJECTIVE</b>To assess the association between sequence variation of Furin gene and obesity in ethnic Kazakh population in Xinjiang region.</p><p><b>METHODS</b>Based on a cross-sectional epidemiological study, a case-control study was conducted. All sequence variants located promoter and exon regions of Furin gene were identified with direct sequencing of PCR products from 66 randomly chosen obese individuals (33 males and 33 females). Polymorphisms representative of a general ethnic Kazakh population (856 subjects, including 364 males and 492 females, 478 from obesity group and 378 from control group) were determined by TaqMan PCR, the association between sequence variation of Furin gene and obesity was assessed.</p><p><b>RESULTS</b>Twelve sequence variations in Furin gene were identified through sequencing of 66 obese individuals. And 4 common SNPs (rs6226, rs6227, rs2071410 and rs4932178) were selected as representative polymorphisms for the general Kazakh population. Above polymorphisms were successfully typed in all subjects. Distribution of the genotypes, alleles, and haplotypes formed by such polymorphisms did not differ significantly between the case and control groups or males and females (P>0.05). The waist circumference also did not differ significantly among individuals with different genotypes (P>0.05).</p><p><b>CONCLUSION</b>Genetic variations of Furin gene are not associated with obesity in Kazakh general population.</p>
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Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos de Casos e Controles , China , Furina , Genética , Variação Genética , Obesidade , Genética , Polimorfismo de Nucleotídeo ÚnicoRESUMO
Liposoluble cape jasmine proteins were used to immunize BALB/C mice. Indirect ELISA was utilized to develop one monoclonal antibody by integrating SP2/0 cells and spleen cells from immunized BALB/C mice. The subclass of the monoclonal antibody was identified as IgG2b, with Kappa chain as its light chain. The ascite titer of 2H8 monoclonal antibody was 1:204 080. Western-blot analysis proved that 2H8 reacted with cape jasmine proteins to identify specific liposoluble protein with molecuar weight of around 58.5 kDa. Dot-ELISA was established with 2H8 ascites as the primary antibody, showing the minimum detectable amount of 19.5 ng. This study lays a foundation for the development of protein kits of Reduning injection.